G34G (p.Gly34Gly) variant of PURA (Q00577)
G34G (p.Gly34Gly) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G34G (p.Gly34Gly) variant details
- p.Gly34Gly
- rs1446546980
- gnomAD 5-140114283-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 15.50
- Most common in the HGDP:DAI population (allele frequency 0.12)
- Structural context available
- Literature evidence available